Results 21 to 30 of about 746,068 (249)

Identification of novel germline mutations in hereditary colorectal cancer patients and characterization of somatic alterations in their tumors [PDF]

, 2008
Colorectal cancer has been reported as the third leading cause of cancer related death in the world. About 5-10% of colorectal cancers are due to an inherited predisposition.
Zhang, Jian
core   +1 more source

Unified classification and risk-stratification in Acute Myeloid Leukemia

Nature Communications, 2022
Classification and risk-stratification for Acute Myeloid Leukemia (AML) at diagnosis are primarily based on cytogenetics and only a few gene mutations. Here, the authors study the genomic landscape of 3653 AML patients and characterize 16 non-overlapping
Yanis Tazi, Juan E. Arango-Ossa, Yangyu Zhou, Elsa Bernard, Ian Thomas, Amanda Gilkes, Sylvie Freeman, Yoann Pradat, Sean J. Johnson, Robert Hills, Richard Dillon, Max F. Levine, Daniel Leongamornlert, Adam Butler, Arnold Ganser, Lars Bullinger, Konstanze Döhner, Oliver Ottmann, Richard Adams, Hartmut Döhner, Peter J. Campbell, Alan K. Burnett, Michael Dennis, Nigel H. Russell, Sean M. Devlin, Brian J. P. Huntly, Elli Papaemmanuil   +26 more
doaj   +1 more source

Identification of Somatic Mutation-Driven Immune Cells by Integrating Genomic and Transcriptome Data

Frontiers in Cell and Developmental Biology, 2021
Tumor somatic mutations in protein-coding regions may generate neoantigens which may trigger antitumor immune cell response. Increasing evidence supports that immune cell response may profoundly influence tumor progression.
Ying Jiang, Baotong Zheng, Yang Yang, Xiangmei Li, Junwei Han   +4 more
doaj   +1 more source

COOBoostR: An Extreme Gradient Boosting-Based Tool for Robust Tissue or Cell-of-Origin Prediction of Tumors

Life, 2022
We present here COOBoostR, a computational method designed for the putative prediction of the tissue- or cell-of-origin of various cancer types. COOBoostR leverages regional somatic mutation density information and chromatin mark features to be applied ...
Sungmin Yang, Kyungsik Ha, Woojeung Song, Masashi Fujita, Kirsten Kübler, Paz Polak, Eiso Hiyama, Hidewaki Nakagawa, Hong-Gee Kim, Hwajin Lee   +9 more
doaj   +1 more source

A practical guide for mutational signature analysis in hematological malignancies

Nature Communications, 2019
Mutational signature analysis provides important information about the mutational processes underpinning different stages of tumorigenesis. Here, the authors compare publicly available signature extraction tools and suggest a framework for the generation
Francesco Maura, Andrea Degasperi, Ferran Nadeu, Daniel Leongamornlert, Helen Davies, Luiza Moore, Romina Royo, Bachisio Ziccheddu, Xose S. Puente, Herve Avet-Loiseau, Peter J. Campbell, Serena Nik-Zainal, Elias Campo, Nikhil Munshi, Niccolò Bolli   +14 more
doaj   +1 more source

Factors influencing cancer genetic somatic mutation test ordering by cancer physician

Journal of Translational Medicine, 2020
Background Clinical whole exome sequencing was introduced in an Australian centre in 2017, as an alternative to Sanger sequencing. We aimed to identify predictors of cancer physicians’ somatic mutation test ordering behaviour.
Anastassia Demeshko, David J. Pennisi, Sushil Narayan, Stacy W. Gray, Matthew A. Brown, Aideen M. McInerney-Leo   +5 more
doaj   +1 more source

Author Correction: A practical guide for mutational signature analysis in hematological malignancies

Nature Communications, 2019
An amendment to this paper has been published and can be accessed via a link at the top of the ...
Francesco Maura, Andrea Degasperi, Ferran Nadeu, Daniel Leongamornlert, Helen Davies, Luiza Moore, Romina Royo, Bachisio Ziccheddu, Xose S. Puente, Herve Avet-Loiseau, Peter J. Campbell, Serena Nik-Zainal, Elias Campo, Nikhil Munshi, Niccolò Bolli   +14 more
doaj   +1 more source

A recurrent somatic missense mutation in GNAS gene identified in familial thyroid follicular cell carcinomas in German longhaired pointer dogs

BMC Genomics, 2022
Background We previously reported a familial thyroid follicular cell carcinoma (FCC) in a large number of Dutch German longhaired pointers and identified two deleterious germline mutations in the TPO gene associated with disease predisposition.
Yun Yu, Freek Manders, Guy C. M. Grinwis, Martien A. M. Groenen, Richard P. M. A. Crooijmans   +4 more
doaj   +1 more source

Genomic landscape and chronological reconstruction of driver events in multiple myeloma

Nature Communications, 2019
Multiple myeloma evolves continuously. Here the authors chronologically reconstruct driver events in multiple myeloma, noting a limited repertoire of initiating driver events that shape the evolutionary trajectory of the disease.
Francesco Maura, Niccoló Bolli, Nicos Angelopoulos, Kevin J. Dawson, Daniel Leongamornlert, Inigo Martincorena, Thomas J. Mitchell, Anthony Fullam, Santiago Gonzalez, Raphael Szalat, Federico Abascal, Bernardo Rodriguez-Martin, Mehmet Kemal Samur, Dominik Glodzik, Marco Roncador, Mariateresa Fulciniti, Yu Tzu Tai, Stephane Minvielle, Florence Magrangeas, Philippe Moreau, Paolo Corradini, Kenneth C. Anderson, Jose M. C. Tubio, David C. Wedge, Moritz Gerstung, Hervé Avet-Loiseau, Nikhil Munshi, Peter J. Campbell   +27 more
doaj   +1 more source

MutEnricher: a flexible toolset for somatic mutation enrichment analysis of tumor whole genomes

BMC Bioinformatics, 2020
Background Analysis of somatic mutations from tumor whole exomes has fueled discovery of novel cancer driver genes. However, ~ 98% of the genome is non-coding and includes regulatory elements whose normal cellular functions can be disrupted by mutation ...
Anthony R. Soltis, Clifton L. Dalgard, Harvey B. Pollard, Matthew D. Wilkerson   +3 more
doaj   +1 more source